| Term Name: | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 |
|---|---|
| Synonyms: | autosomal dominant progressive external ophthalmoplegia 5, PEOA5 |
| Definition: | A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. |
| Ontology: | Human Disease [DOID:0111518] ( DOID:0111518 ) |